xp22.31https://www.autismspeaks.org/taxonomy/term/32096/0
enFinding Information on Autism-Related Genes https://www.autismspeaks.org/blog/2013/02/08/finding-information-autism-related-genes
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<p>A parent wants more information on her daughter's autism-related gene mutation. What resources are available? </p>
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<p><strong>My 2.5-year-old daughter has a deletion on the short arm of her X-chromosome (Xp22.31). What do researchers know about the relationship between autism and genetic changes? How can I find &nbsp;researchers who are studying this particular deletion?&nbsp;</strong></p>
<p><em><img align="left" alt="" border="0" src="http://www.autismspeaks.org/sites/default/files/images/science/science_news/alycia_halladay.jpg" style="padding:5px;margin-right: 5px; border: 0px;" /></em></p>
<p><em>This week&#39;s &quot;Got Questions?&quot; answer comes from </em><em>Alycia Halladay, PhD, Autism Speaks senior director for environmental and clinical sciences. </em></p>
<p>With new technologies and the identification of new autism-associated gene changes, genetic counselors are better equipped than ever to provide guidance to questions such as yours. Genetic screening allows researchers to probe more deeply into how mutations, deletions and duplications affect an individual&rsquo;s risk of developing autism spectrum disorder (ASD).&nbsp;</p>
<p>However, there&rsquo;s still much we don&rsquo;t know. While we understand the role of some genes, scientists also agree that in many cases, dozens &ndash; if not hundreds &ndash; of genes contribute to the risk of ASD.</p>
<p>We do know that there are a few single-gene disorders associated with a high risk of autism. These include fragile X syndrome, tuberous sclerosis complex, chromosome 15q duplication syndrome, copy number variation <a href="http://blog.autismspeaks.org/tag/geraldine-bliss/">Pheland-McDermid syndrome</a> and <a href="http://www.autismspeaks.org/blog/2012/11/02/digeorge-syndrome">DiGeorge syndrome</a>.</p>
<p>A number of advocacy groups and organizations provide information, parent and child support, research funds and services for those affected by these specific genetic disorders. (See list below.)</p>
<p>Unfortunately, I&rsquo;m not aware of an organization that specifically addresses Xp22.31 deletions. There are, however, a few parent support groups on <a href="http://health.dir.groups.yahoo.com/group/Xp2231Duplication/?tab=s">Yahoo</a> and <a href="http://www.facebook.com/pages/XP-Chromosome-Duplication-2231/121296864618114">Facebook</a>. The <a href="http://www.nsgc.org/">National Society for Genetic Counselors</a> provides a platform for finding genetic counselors who may be able to help you further. The society&rsquo;s website also has a helpful discussion forum.</p>
<p>To find research teams looking at a particular autism-related mutation, it can help to perform a PubMed or &ldquo;Google Scholar&rdquo; search. Here are my <a href="http://scholar.google.com/scholar?hl=en&amp;q=%E2%80%9Cxp22.31+deletion%E2%80%9D+autism+&amp;btnG=&amp;as_sdt=1%2C33&amp;as_sdtp=">search results</a> for &ldquo;Xp22.31&rdquo; and &ldquo;autism.&rdquo; Among the authors of these studies, you may be able to identify a research group at a university or medical center in your region.</p>
<p>If you are interested in enrolling your child in a clinical trial, we hope you will first read Autism Speaks <em><a href="http://www.autismspeaks.org/science/participate-research/participants-guide-drug-research">Participants Guide to Autism Drug Research</a> </em>(available for free download)<em>.</em></p>
<p>We also recommend several organizations that provide information and resources on more-common genetic disorders strongly associated with autism.</p>
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<a href="http://www.fraxa.org/">FRAXA Research Foundation</a> for fragile X syndrome. Families affected by fragile X founded this grassroots nonprofit in 1994. FRAXA raises awareness about fragile X. It also provides support to families and individuals affected by the condition.</li>
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<a href="http://tsalliance.org/index.aspx">Tuberous Sclerosis Alliance</a> for the tuberous sclerosis complex (TSC) gene on chromosome 9 or 11. This organization, founded in 1974 by four mothers of children with TSC, dedicates itself to finding a cure for the disorder. The organization&rsquo;s website offers information for individuals and families, healthcare professionals and scientists. It also provides support for the newly diagnosed and for school-related issues.&nbsp;</li>
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<a href="http://www.idic15.org/" target="_blank">Dup15q Alliance</a> for chromosome 15q duplication syndrome. This organization keeps an international registry of those affected by Dup15q syndrome. It provides a network for parent mentoring and support and holds an annual conference where parents and professionals can meet. The alliance also advocates for research.</li>
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<a href="http://simonsvipconnect.org/">Simons VIP Connect</a>, for copy number variation (CNV) deletions or duplications, including 16p11.2 and 1q21.1 deletion or mutation. This foundation provides information about CNVs, including webinars and meetings. It also puts families in touch with experts to answer questions and offers information about participating in research.</li>
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<a href="http://22q13.org/j15/index.php?option=com_content&amp;view=article&amp;id=53&amp;Itemid=28">Phelan-McDermid Syndrome Foundation</a> (formerly known as 22q13 deletion syndrome). This foundation works to improve the quality of life for people affected by PMS worldwide. It sponsors conferences and supports research through grants and fellowships. Free membership provides families with a quarterly newsletter and access to regional representatives who help with networking and support. You can learn more about the Phelan-McDermid Syndrome Foundation in <a href="http://blog.autismspeaks.org/2011/01/11/the-phelan-mcdermid-syndrome-foundation/" target="_blank"> this blog</a> by Geraldine Bliss, chair of the organization&#39;s research support committee.&nbsp;</li>
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<p><em>For more information on autism and genetics, see our news story on <a href="http://www.autismspeaks.org/science/science-news/researchers-identify-24-more-%E2%80%9Chigh-impact%E2%80%9D-autism-gene-changes">&ldquo;high impact&rdquo; autism gene changes</a>, <a href="http://www.autismspeaks.org/science/science-news/father%E2%80%99s-age-linked-increased-genetic-mutations-children">father&rsquo;s age and autism risk</a> and <a href="http://www.autismspeaks.org/blog/2013/01/15/communicating-autism-risk">autism risk factors</a>. Autism Speaks <a href="http://www.autismspeaks.org/science/science-news/autism-speaks-awards-48-million-new-research-grants">provides support for research</a> investigating the links between autism and genetics, including <a href="http://www.autismspeaks.org/about-us/grant-search%20fragile%20x">fragile X syndrome</a><a href="http://www.autismspeaks.org/about-us/grant-search%20fragile%20x%20tuberous%20sclerosis">, tuberous sclerosis</a> and <a href="http://www.autismspeaks.org/science/grants/genomic-imbalances-autism?destination=about-us%2Fgrant-search%2Fresults%2Ftaxonomy%3A9771+16p11.2">16p11.2</a>.&nbsp;</em></p>
15q duplication syndrome16p11.21q21.1Alycia HalladayASDautismautism genesautism geneticsAutism Speaksautism spectrum disordercauseCNVcopy number variationDup15qfragile x syndromegenetic risk factorsGot Questions?Phelan-McDermid SyndromePMSrisksSciencescience blogtuberous sclerosisxp22.31Fri, 08 Feb 2013 12:02:09 +0000216621 at https://www.autismspeaks.org